| Karsch-Neugebauer-syndroom (aandoening) | | Karsch-Neugebauer-syndroom | | syndroom van Karsch-Neugebauer
| | Karsch Neugebauer syndrome | | A rare syndrome with characteristics of split-hand and split-foot deformity and ocular abnormalities mainly a congenital nystagmus. Ten cases from four families have been reported in the literature. In some cases the hands are monodactylous. The affected patients have normal mental development. The condition seems to be autosomal dominant with a relatively high proportion of gonadal mosaicism. |
| | Id | 722032005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.2 | | Term | Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten |
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| SNOMED CT to Orphanet simple map | 2329 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.2 | | Rule | TRUE | | Advice | ALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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